×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827713687
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452467
ClinVar RCV Id:
RCV000519422
RCV001853681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340123.1:p.Arg390His
CA5293659
NM_001353194.2:c.1169G>A